Ghedira E.S.,Laboratory of Biochemistry and Molecular Genetics |
Dupin-Deguine D.,Purpan Hospital |
Duffilot D.,Center Hospitalier Of Bigorre |
Lemetayer N.,Laboratory of Biochemistry and Molecular Genetics |
And 3 more authors.
Hemoglobin | Year: 2011
The preparation of a prenatal diagnosis in a family of North-African origin in which a child received a bone marrow transplant for β-thalassemia major (β-TM), prompted us to make the molecular diagnosis in the parents and siblings. Molecular and phenotype assays were carried on blood samples from the parents and the proband's sister. The father, a 45-year-old man, was found to be heterozygous for a rare mutation in exon 2 [codon 46 (+A), HBB:c.138-139insA] creating a frameshift, while the mother and sister were found to be carriers of the common codon 39 (C>T) stop mutation (HBB:c.118C>T). Because of the bone marrow transplant, proband genotyping was done from a buccal swab and revealed that he is a compound heterozygote for both the codon 46 and codon 39 mutations. In the parents and sister, hematological parameters were those of a thalassemia minor in agreement with the two β0 mutations found in the family. © 2011 Informa Healthcare USA, Inc.